Solving genetic disorder HHT is Norrix grad's mission

COURTESY PHOTOJamie McDonald works with a patient as part of her duties as co-director of a clinic at the University of Utah working to cure her own family s genetic disorder.

SALT LAKE CITY — Frequent
nosebleeds as a child, extreme fatigue during rigorous exercise, a
mini-stroke when she was in her
early 20s and the death of her firstborn child at 18 months were
all signs pointing Jamie McDonald to the fact that she and
others in her family had a genetic disorder that needed to be
dealt with.

“I was not only through graduate school,
but a couple of years out of graduate school before it registered with
me that my
family does have a genetic disease, and it’s not a disease that’s
ho-hum, it’s something that we really should pay attention
to,” said McDonald, a 1979 Loy Norrix High School graduate who is
founder and co-director of the HHT clinic at the University
of Utah.

HHT stands for hereditary hemorrhagic telangiectasia, which causes malformed blood vessels in the skin, mucous membranes and
sometimes major organs, called arteriovenous malformations (AVMs), and is the disorder that McDonald learned was passed to
her by her father, retired Kalamazoo pediatric allergist James McDonald, and to him from his father.

Family diagnoses

In addition to her daughter who died, McDonald’s other two children, Connor McDonald Kamm, 23, and Allison McDonald Kamm,
21, also have the gene. That’s an oddity in itself, because children who have one parent with HHT stand just a 50 percent
chance of inheriting it. Her husband, Brian Kamm, does not have HHT.

“I just flipped the coin three times, and it came up HHT three times,” McDonald said.

HHT affects one in about 5,000 people. While it is important that people with it are diagnosed and treated, relatively little
was known about it as recently as 30 to 40 years ago, McDonald said.

She has been working to change that.

“A little over half of people with this disorder, if they don’t get diagnosed and get screened, ... will die prematurely with
something we could have treated for,” McDonald said.

“My family was like most families (in) that we had to have a catastrophe happen (in order to take the disorder seriously).”

After the death of her daughter, McDonald recalled an aunt who died at 24 of a brain abscess that probably was a result of
HHT.

“This is a disorder that presents (itself) in weird, really disparate ways, in a way that the pieces of the puzzle don’t get
put together even by ... (many) physicians,” she said.

Treatment can range from use of lasers to stop nosebleeds to embolism, which limits the blood flowing through abnormal vessels.

Career converges with life

Without knowing it, McDonald had followed an educational path that would enable her to learn more about the disease.

“I decided to go to graduate school in genetic counseling ... because genetics was my favorite area of biology ... but I also
knew I wanted to do something in health care,” McDonald said.

“It was just purely an academic interest and a good fit for me. I really, for the most part, didn’t appreciate the fact I
had a genetic disorder at that point.”

In 1988, two years after getting her master’s degree from the University of California-Berkeley, McDonald landed a job in
the pediatrics department at the University of Utah Medical Center.

“When I went into genetic counseling 25 years ago, genetic counselors pretty much worked in pediatric departments,” she said.
“At this point in time, genetics intersects with almost all areas of medicine.”

With signs of HHT manifesting itself in her lungs in 1993, McDonald went to Yale University to seek treatment from Robert
White, an interventional radiologist who had developed ways not only to diagnose HHT, but also to treat AVMs in the lungs.
Yale’s was the only such HHT specialty center in the country at the time.

Founding a clinic

“I decided there ought to be at least one place on the west side of the country where people could come and tap into that
same kind of expertise,” McDonald said.

She found the University of Utah Medical Center receptive to the idea and, in 1995, she launched the university’s HHT clinic,
the second in the country to Yale’s. It is now one of about a dozen in the United States.

“From the beginning, there’s been amazing support of various department heads and the administration,” said McDonald, who
co-directs the clinic with cardiologist Kevin Whitehead.

Although the clinic is part of the radiology department, where much of the evaluation of clients with HHT takes place, McDonald
has a faculty appointment in the pathology department.

“People need to be seen in so many
departments ... so different entities of this medical center own
different pieces of me,”
she said. “This is a disorder that goes undiagnosed probably 90
percent of the time, and you can truly prevent the life-threatening
disabling complications of it.

“It’s a very rewarding disorder to work with because ... (it is possible) to take a 30-year-old who was walking around with
what constitutes a ticking time bomb and fix it.”

Wearing many hats

McDonald does more than just counsel HHT patients.

“I figure my time is split in thirds in seeing patients with disorders in the clinic, management and research,” she said.
“I publish a couple of papers a year on this disorder.”

McDonald also has served on the HHT Foundation International board of directors and on the HHT Foundation International Medical
and Scientific Advisory board for many years, according to the University of Utah website.